1. 1239 Microcosting evaluation of prognostic/predictive biomarkers performed in a large French prospective cohort of non previously treated advanced NSCLC. Preliminary report of the IFCT-PREDICT.amm cohort. (September 2015) Authors: Loubiere, S.; Wislez, M.; Beau-faller, M.; Nanni-metellus, I.; Garcia, S.; Chenard, M.P.; Ghnassia, J.P.; Lacave, R.; Antoine, M.; Sobol, H.; Paciencia-gros, M.; Escande, F.; Copin, M.C.; Morin, F.; Missy, P.; Cadranel, J.; Barlesi, F.; Auquier, P. Journal: European journal of cancer Issue: Volume 51:(2015)Supplement 3 Page Start: S186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Intrafamilial variability of ZRS‐associated syndrome: characterization of a mosaic ZRS mutation by pyrosequencing. (6th January 2015) Authors: Vanlerberghe, C.; Faivre, L.; Petit, F.; Fruchart, O.; Jourdain, A.‐S.; Clavier, F.; Gay, S.; Manouvrier‐Hanu, S.; Escande, F. Journal: Clinical genetics Issue: Volume 88:Number 5(2015:Nov.) Page Start: 479 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. (12th September 2013) Authors: Petit, F.; Escande, F.; Jourdain, A.S.; Porchet, N.; Amiel, J.; Doray, B.; Delrue, M.A.; Flori, E.; Kim, C.A.; Marlin, S.; Robertson, S.P.; Manouvrier‐Hanu, S.; Holder‐Espinasse, M. Journal: Clinical genetics Issue: Volume 86:Number 3(2014:Sep.) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. PTEN, ATM, IDH1 mutations and MAPK pathway activation as modulators of PFS and OS in patients treated by first line EGFR TKI, an ancillary study of the French Cooperative Thoracic Intergroup (IFCT) Biomarkers France project. (January 2021) Authors: Blons, H.; Oudart, J.-B.; Merlio, J.-P.; Debieuvre, D.; de Fraipont, F.; Audigier-Valette, C.; Escande, F.; Hominal, S.; Bringuier, P.‐P.; Fraboulet-Moreau, S.; Ouafik, L.; Moro-Sibilot, D.; Lemoine, A.; Langlais, A; Missy, P.; Morin, F.; Souquet, P.-J.; Barlesi, F.; Cadranel, J.; Beau‐Faller, M. Journal: Lung cancer Issue: Volume 151(2021) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Small patella syndrome: New clinical and molecular insights into a consistent phenotype. Issue 6 (9th November 2017) Authors: Vanlerberghe, C.; Jourdain, A.‐S.; Dieux, A.; Toutain, A.; Callewaert, B.; Dupuis‐Girod, S.; Unger, S.; Wright, M.; Isidor, B.; Ghoumid, J.; Petit, F.; Boutry, N.; Escande, F.; Manouvrier‐Hanu, S. Journal: Clinical genetics Issue: Volume 92:Issue 6(2017) Page Start: 676 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Split hand/foot malformation with long‐bone deficiency and BHLHA9 duplication: report of 13 new families. (15th July 2013) Authors: Petit, F.; Jourdain, A.‐S.; Andrieux, J.; Baujat, G.; Baumann, C.; Beneteau, C.; David, A.; Faivre, L.; Gaillard, D.; Gilbert‐Dussardier, B.; Jouk, P.‐S.; Le Caignec, C.; Loget, P.; Pasquier, L.; Porchet, N.; Holder‐Espinasse, M.; Manouvrier‐Hanu, S.; Escande, F. Journal: Clinical genetics Issue: Volume 85:Number 5(2014:May) Page Start: 464 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗